~ Every character is controlled by discrete ur called factors. The factors occur in pairs. a dissimilar pair of factors (e.g., Tt), only one is able to express its effect that led as dominant factor. The other factor which does not show its effect is snlown as recessive factor. This law is not universally applicable. Two factors of a character present in an in (blending). idual do not get mixed up © Both the traits are recovered as such in the F, generation though one of these is not seen at the F, stage. During gamete or spore formation, factors of a pair separate or segregate from each other, so that a gamete carries only one factor of a character. This ensures the purity of gametes. Law is universally applicable. Incomplete Dominance) Pleiotropy_ Codominance e.g., Flower colour in e.g. ® Gene e.8., ABO blood grouping Snapdragon/0og flower/Antirthinum majus 862 Bb>O)ATM gilt 0 | By el tine? fee ee oo Tons eh € <6) Guo @:= Fink, 4 3 fied flown While flew ae w =n Gased on Gvalilative mhcaitance one gene Conterl ome Achacachber Incomplete Dominance| ‘Codominance e.g, ABO blood grouping e.g., Flower colour in 2 ; ~ ae = 6 B6 eal % ol J } eis Ww ae” a wOr laa | ¥ Bhs Syinteamedinle (5 f bes a ysmatl cers xi Multiple Allelism oO + OME Geme has Multiple alleles + Ee- Human Glood gsou ayo Controtied 84 Gene T spe 4/6/° (. 4 GeneL'+¢’£ Gene L as Boles oO T Dominant aliele 4° ® T? Ci) heerssive atele Genet Genel Kreis4 Types of Blood Group. WANS pURD © sar Cimp ‘1 gtoed 2 Gaovp Att LDihybrid Cross O@yontrasting Characters Dommont X Recessive s x ~ Round fellow seeg winked ia ARTY Pore Pore gimpre yo AY YY atv — @ found elle » ©) Gams AY | ay | 6 % 4 @z frond Hteiow TY ar "Se fe sr 3S ay Pal e oe a’ oS Yolo @ ie ¥ ow esr 0Ces vam OD a Oi Round F Yettow ay 5a 3 Ov iy O@® = orinnted? Quen % AU= 10~forenibal ty pe aoe fetombinanl + {ype ee ie., Genotypic ratio: 1:2:1:_2:4:2:1:2:1(9 types of genotypes) 7 En etl? ~ ==Seed shag + Seed (eLour I= (04 ae.) rE! #Q. Heterozygous Round & Yellow seeds sere selfed. TotatiOOveed 30)seeds were collected. : How many of thousand seeds will hav Rivy) d espectively? Solution: fr x % Ty e a 6 t \90® ae ay. \b Re looo= t eA #Q._In Pisum sativa, yellow seed colour (¥) is dominant over green (y), and round shape of seed (R) is dominant over wrinkled (y). Consider that these two pair of genes assort independently, then i, What proportion of the off a from the cross{YyRr * yv would expected to have seeded trait? ii. From the cross Yyrr x Yyrr, how many will be pure yellow-wrinle plants in the resulting generation? Gy 0 TG or= ° ==? | —+Based upon the results obtaine Mendel proposed a y=" second set of generalizations that we call Mende’’s Law of Independent Assortment. — The law states that “when two pairs of traits are combined in a hybrid segregation of one pair of traits is independent to the other pair of traits”. =" Skin Colovy fy yenic tril Bpary €) Gener Control shin Co Aecided ay Melanin producti Coma S ieee = Srlaeme Deo O Dominant = Aabbee = Extreme aug EE 3 } .}8£aiears8 gqsece x Gawned) 0 AGC abe =lnterwardinte sin colord see) rqultate) pporce * Ao bbCe CS « Yee eZ Note: ‘Mendel started his work on pea in 1856 and published it in 1865. His work did not receive any recognition it deserved, till 1900. | Mende! work remained unnoticed and unappreciated for several years due to following reasons: 1. Communication was not that easy; limited publication of Mendel’s work. 2. His ideal of factors as stable and discrete units were not accepted by his fellow scientist Charles Darwin and AR. Wallace. 3. He used mathematical logic and statistical analysis to prove biologically phenomenon was completely new and unacceptable, 4. He didn’t provide any physical proof for existence of factor. 5. Non-discovery of chromosome, mitosis, meiosis. CiewsrD * After 16 years of his death i.e., 1900, Mendelism was rediscovered by: Xe Tschermack 2 Correns > 36 Hugo-de-Vries» Proposed independently Close, similarity between the transmission of hereditary traits and behaviour of y osomes while passing from one generation to the next. “€ salient features of chromosomal theory of inheritance are as follows: Like hereditary traits (Gene), Chromosome also retain their number, structure and Individuality from 1 generation to other. t Two never gets mixed up. They behave as units. ¢ 2. Both, chromosome and gene occur in pair in diploid somatic cell. Genet ££ Gene + \ aa JF 3. Both, chromosome and genesegregate)during gamete/spore formation, so that gamete receive only 1 allele out of pair and 1 chromosome out of pair. + Parent a Tt a nd 4. Gamete contains only 1 chromosome and allele (gene) out of pair. Staple GeneT t 1. Diploid is restored during fertilization, *LG] Note: Experimental verification of the chromosomal theory of inheritance by Thomas Hunt Morgan. Drosophila (wil? % \ » Fruit fly Drosophila is a tiny fly of about 2 mm size which is found over ripe fruits like mango and banana. © Drosophila is suitable as experimental material because: we 1 (Eisyy0 grow on synthetic medium = 2. Gingislmating produces large numberof offsprings wy \ , L 3. Life cycle is abou(2 weeks) 4. (small size) and 9 (Large size, Presence of egg laying structure (OVIPOSITO’ distinguished 5.__Less number of morphologically distinct eworosone fn} i Crear! er Oo 6. Low hereditary variations that can be easily seen with low power microscope. 7. 2n48).e., 4 pair of chromosomes 6 auvtosomes eX Sexcheamgostunes / Hetaosomes /A ito songes X chromposenne Seheeetose | nt x P Prosophitig 3 dros ophilla,Homomnorphic Sexc tavwyosone g Jendel wor Ked oO Sia cases’ fen (n=4) tow g Tndependent ese : ype on g ab at 4 * Mpugan cepined Linwnge os i ti physical association @ “Genes — MMaeyes” ——egiee—' Y 4 ema [eT Acs sek plicable _4 4 _¢ Guned Gene dy Sen rengd Meme Gee tse, Gene a. +t Present on same Chrowjenme, Gene, Genel Such Genes ave Galtedar Linked Genes vY Lo-T-A net applicable aD A eee oF) To Memael, 7 fast for Veharachton ane Present om 7 chr om © Recombination te Recombinents shetombinante ane nen-porrutal Combination erommbinanli are dhe ne of ee eer oven E ¥Types ° Lin! [Com plete Uinkovge | 4 Incomplete Lina v 0 oun A, 8 t+ : Cae pach waa feos ove Joressing ve Lm A & engi Aes > fr ‘ooh : y € > Distance ovanlagses Creal some isrive Distamce is less a logan Te 1 wo Mite, ee over, when ae Re 7 ia » ote 4 Gen wot pl coed spec cing bn Sn sul Gees axe Sainte Be caries ane Colles vs 3 ee, Linked Genes & woompey Linked hemes ma "3 KJ Complete, atten ven ong Genes ac rote 4 Geo wot chemed a< Rie (e) wen ste Gres ane Sainte Be Compt Lintved Genes 2 © oan 4S Jo Complete, = Civumsr moSS @ Linx ‘ ws we is tf cate SL Distome is less bag PEK = sore [Ho biennae] ®@ f= pearmtau Reraiaceaenensyy tyre Combination 6 Pitre pe? 50 Kanon es i) < Get G—> P=h= Sor [ne Wannge] oe oe * f= porrntat ae tre Li Heed Feet] Ree P Invomptete Li nha ty pe Combination Loosel Linkaot Ueenes Intvrmpleta Linking Ineseae rel inks hen orbs by us ¢ weds Linked Genes) he eo > Rerombinante ® eee & Oo Menace Student ALined Sturtevant © vsed *Jo 4 Aecombinant (Aetombination frequencies) Te map the posi ition 4 Genes on chromosome a for x 1%o= A Sh = SM oy Swamp unit AeM ov Lmopunit for fron. « allie+ forthe fivsk time, ke Constructed chrommsimal reap Of dr osophitt 4° wo Chromosempe bse + chess A—> Ape es = bse (ofw Seay cotor bye calor 37.8 + Chess B— Ae u@a) = 342c4 (go eyecntor © E25 (KO Mm) tee leery Linkest agree D genes Unkeg d i “ Come g [Neral “it CoxvresGovt Colovrblindnes dy } rentio b]w Redy Green oO XY Normal 1 Diseased, XX Normal f% = Comin [Normal wl foo KE — Dicensed @ ct fe « xr cers a a F whose fatver was Colomblind marries a Female witty normal vision ea Aistaced, Wy 1 x eS ol, oy \anamnled aA nal xox x= a ea be diseaseased mriher Should, be Coritg father should, Be diseased mathe, father . \ xx el 2 “9 4% x / x Cire azSree Cif Chom: 44 Hb! Hb! = Normal He 7 Se eet > Di seasestatelel Sere er 5) > Normal Corie HBP Hb” = Diseased é HAH, HbS Hb? WP is substitubed 6 (tyrmarne) IV Cforine) Tris type whue Pyar om SubsitiLuted By Raine rs Nla Substity ton mutation (Trawsyersionmautation) 4 Notation UP is substitubed 8 (tym re) V Cforme) Tis typ aiiecae wha ty 90) Braces Raine is Koy substitu tfon motation, (Trawsver sion mutation) ? Pont Mutation pred3 Gemotype chrom 44 Hb" He* =» tel cose SRNR NUON ok TOTES eee eee es ; iemeeeens CTS nen oer ge HBP Hb = Diseased iriepof the: Myer mene Seen cen reese ne eee ea te a emi ee ees! ence elie 0 6+ pomtion g Bohan 4) Hb wae ae portion 4 ] Thatia O: inborn oot 4 rretabo lism, OAvtoromal eles sive TLype Ameri O thenigetenne Hydhorg ate A boon + Quontit Peer © Since Ais ewrynne 'S Absent ee ve phenylalanine '< not Conveaed nts syrosme Jn stead, eileen! eG accumulated & ry get Comveated as peng Boric Ace x ¢ WW == Cer! © inborn amor J metabolism @Avtosomal Recessive. TUE YAnacmniey @ Premiyatanne Hyshory nse Absent + Guantitative disorder * Avtosemol Recessive Ard) -Tratnsemnia€) Facog batenine’ 15 not Convuted ite Uyrosine “Thalassemia ®) Instead, ea reteries yet ae ® a Converted iuitt phen p ® Since this emsyene S Absent 6 © xr ( a weAncuptoidy = type 4 Mutation = change Addit’ Turner’ Syria Kiineteter syndrome (44 + xxy) = sexchiomosonn rae Monolien i se 050 Winns : ih in mo g Chromosome on /Belation 4 2 [few chromeso mye. Ex. Tuner syndrome = 40 Down Syndrome (Trisomy of 2ist chromosome) + Fst deserted in 1868 by Langdon Down, Develops due to tikomy of ervomoxore number? SS np characterized by Short stature smattround head 7 Far J Partaty open mouth Z sod poim wth characterise palm fowed tongue 7 rony toops' on fingertips bi ond wrinkled tongue Prysical (underdeveloped gonads and gontais. loose jonedress). homotor and mental development doom Sa Kiinefitta” 2 4M Turner's Syndrome Klinetetter Syndrome (4430) (44 + xy) + 9 bean gett AY sovonres, say Chyae - ©risomy of 2Ist hromosome) pcr in Syndrome Turt=“s Syndrome vn 3 coastaey e Ex errs rennin Cam acis The Oni ore eene TT society since long. This Pore Se ee een et eee ce a ee Renters a eee ene sel ae eS ‘Some of the important standard sy ha an) DO ne Penge reece me nent esse 1 (44 + xxy) e withe @ bine Chanathtas: (GeencisertieMethod of study of human genetic disorders. In the pedigree analysis the tree over generations. is represented in the family aheritance of a particula Useful for the genetic counsellors to advice intending couples about the possibility of having children with genetic defects like haemophilia, coloyr blindness, phenvketonura thalassemia, sickle cell anaemia (recessive traits), myotonic dystrophy and polydactyly (dominant traits) By pedigree analysis one can easily understand whether the trait in question is autosomal dominant or recessive Similarly, the trait may also be linked to the sex chromosome as in case of haemophilia, , smppny q.seersation ‘ Porm Giitul lorem = X linked Betessoat core = swiping Qarerration lad Bimat Papa Ghul tern = 4 (Hu watch Pediguec (Hu) 4 F Analysis Geture ( 4 from fa blk